Clinical trials: Genetic Mutations
Genetic Disease, Nonsense Mutation
A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele.
- Conditions
- Genetic Disease, Nonsense Mutation, Cystinosis
- Trial name
- NCT04069260
- Testing
- ELX-02
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Infection, Human Immunodeficiency Virus I, HIV Infection
Observational Study Of A Protease Inhibitor (PI) Containing Regimen In Subjects With PI Mutations Selected During Prior Treatment With GW433908 (Fosamprenavir)
This study will assess the efficacy of subsequent protease inhibitor (PI)-containing therapy in subjects who have acquired HIV-1 protease mutations whilst receiving a GW433908 (fosamprenavir)-containing regimen.
- Trial name
- NCT00242840
- Testing
- No intervention; Observational study
- Where
- 7 sites in United States, Italy
- Volunteers
- 20 people
- Sponsor
- ViiV Healthcare
Cystic Fibrosis
Evaluation of Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) in Cystic Fibrosis Subjects Without an F508del Mutation
This study evaluated the efficacy, pharmacodynamics (PD) and safety of ELX/TEZ/IVA in participants 6 years of age and older with a non-F508del ELX/TEZ/IVA-responsive cystic fibrosis transmembrane conductance regulator gene (CFTR)…
- Trial name
- NCT05274269
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 90 sites in Austria, Belgium and 13 more
- Volunteers
- 307 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
NF1, Neurofibromatosis
Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults
This study, "A Phase II Study of Cabozantinib (XL l84) for Plexiform Neurofibromas in Subjects with Neurofibromatosis Type I in Children and Adults diagnosed with Neurofibromatosis Type 1 (NF1) and have a type of tumor called a…
- Conditions
- NF1, Neurofibromatosis, Plexiform Neurofibromas
- Trial name
- NF105-CABO (NCT02101736)
- Testing
- Cabozantinib
- Where
- 12 sites in United States
- Volunteers
- 45 people
- Sponsor
- University of Alabama at Birmingham
Inherited Retinal Dystrophy Due to RPE65 Mutations, Leber Congenital Amaurosis
Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
The study is a Phase 3, open-label, randomized controlled trial of gene therapy intervention by subretinal administration of AAV2-hRPE65v2 (voretigene neparvovec-rzyl).
- Trial name
- NCT00999609
- Testing
- AAV2-hRPE65v2,voretigene neparvovec-rzyl
- Where
- 2 sites in United States
- Volunteers
- 31 people
- Sponsor
- Spark Therapeutics, Inc.
Skeletal Class III Malocclusion
Figuring Out the Genetic Mutations That Lead to Lower Jaw Advancement More Than the Upper Jaw
Purpose of the Research: To reveal the genetic cause for the occurrence of Class III malocclusion, or what may be described as a reverse bite (underbite). Introduction and Detailed Procedures for the Patient (Work Plan): 1.
- Trial name
- NCT07749638
- Where
- Egypt
- Volunteers
- 93 people
- Sponsor
- Cairo University
Duchenne Muscular Dystrophy, Exon 44
Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping
AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants…
- Trial name
- EXPLORE44 (NCT05670730)
- Testing
- AOC 1044
- Where
- 10 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Avidity Biosciences, Inc.
Hereditary Elliptocytosis (HE), Hereditary Pyropoikilocytosis (HPP)
A Novel Mutation of the Spectrin Gene
The purpose of this study is to find a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP.
- Trial name
- NCT00723567
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Utah
Nephronophthisis, NPH1
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive
- Trial name
- NPH1 (NCT06648044)
- Testing
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Where
- France
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Imagine Institute
Chiari Malformation, Type 1
Identification of Genetic Mutations Involved in Chiari Type I Malformations
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations.
- Trial name
- ChiariGene (NCT05165030)
- Testing
- Blood Sample
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
A Study of DB-OTO, an Adeno-Associated Virus (AAV) Based Gene Therapy, in Children/Infants, Adolescents and Adults With Hearing Loss Due to Otoferlin Mutations
Regeneron is conducting a study of an investigational new drug called DB-OTO. DB-OTO is a gene therapy that is being developed to treat pediatric and adult participants who have severe-to profound and profound hearing loss due to…
- Trial name
- CHORD (NCT05788536)
- Testing
- DB-OTO
- Where
- 17 sites in United States, Germany and 3 more
- Volunteers
- 36 people
- Sponsor
- Regeneron Pharmaceuticals
HIV-1-infection
Investigating the Optimal Management of Dolutegravir Resistance
The goal of this study is to address the gap in published data on viral suppression among people meeting the criteria for virologic failure on dolutegravir (DTG)-based ART regimens without a change in regimen.
- Trial name
- NCT06762054
- Testing
- Continue DTG-based antiretroviral therapy, Enhanced adherence counselling
- Where
- 9 sites in Kenya, Lesotho and 2 more
- Volunteers
- 6,624 people
- Sponsor
- University of Nairobi
Cystic Fibrosis
A Study to Evaluate the Safety and Efficacy of Long-term Treatment With TEZ/IVA in CF Participants With an F508del CFTR Mutation
This study evaluates the long-term safety and tolerability of tezacaftor in combination with ivacaftor (TEZ/IVA) in participants with cystic fibrosis (CF) aged 6 years and older, homozygous or heterozygous for the F508del…
- Trial name
- NCT03537651
- Testing
- TEZ/IVA, IVA
- Where
- 55 sites in United States, Australia and 9 more
- Volunteers
- 130 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Paraganglioma, Pheochromocytoma
Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study
Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system, some which can become metastatic. It is a very rare disease and the tumours are often detected late.
- Conditions
- Paraganglioma, Pheochromocytoma, Genetic Predisposition to Disease, Pathology
- Trial name
- PPGL-Pred (NCT04788927)
- Where
- 2 sites in Denmark
- Volunteers
- 400 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Retinitis Pigmentosa
Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
The rod-cone dystrophies (often referred to as retinitis pigmentosa (RP)) are a clinically and genetically heterogeneous group of disorders in which there is progressive loss of rod and later cone photoreceptor function leading…
- Trial name
- NCT03349242
- Where
- 8 sites in United States, Canada and 1 more
- Volunteers
- 140 people
- Sponsor
- MeiraGTx UK II Ltd
Cystic Fibrosis
A Study Evaluating the Long Term Safety and Efficacy of VX-659 Combination Therapy
This study will evaluate the long-term safety and tolerability of VX-659 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are homozygous or heterozygous for the…
- Trial name
- NCT03447262
- Testing
- VX-659/TEZ/IVA, IVA
- Where
- 100 sites in United States, Australia and 9 more
- Volunteers
- 484 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
HIV Infections, Human Immunodeficiency Virus
Randomized, Double-Blind Study Comparing Dexelvucitabine (DFC) to Lamivudine (3TC) in Subjects With Resistance to NRTIs, PIs, and NNRTIs
The study will compare the safety and efficacy of an investigation nucleoside analog reverse transcriptase inhibitor (NRTI), dexelvucitabine (DFC), to an approved NRTI, lamivudine (3TC) in HIV treatment-experienced patients who…
- Trial name
- DECLARE (NCT00300573)
- Testing
- Dexelvucitabine
- Where
- 11 sites in United States, Puerto Rico
- Volunteers
- 250 people
- Sponsor
- Incyte Corporation
Sensorineural Hearing Loss, Bilateral
Gene Therapy Trial for Otoferlin Gene-mediated Hearing Loss
Part A of this trial evaluated the safety and tolerability of a single surgical administration procedure in one or both ear(s) with one of two dose levels of AAVAnc80-hOTOF (LY888891) and evaluated the Akouos Delivery Device…
- Trial name
- NCT05821959
- Testing
- AAVAnc80-hOTOF via Akouos Delivery Device, AAVAnc80-hOTOF via Akouos Delivery Device and Precision Delivery Mechanism
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 48 people
- Sponsor
- Eli Lilly and Company
BRCA1 Mutations
BRCA1 Haploinsufficiency and Gene Expression
The purpose of this study is to collect a blood sample from patients that may be used for research purposes. These blood samples will be used by researchers at this institution to study the causes of breast and ovarian cancer…
- Trial name
- NCT00597987
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Non-small Cell Lung Cancer
The Recurrence Gene Profiles of Adjuvant Osimertinib Therapy in Resected Non-Small-Cell Lung Cancer
This study was a multicenter, real-world observational study aimed at characterizing the genomic landscape of recurrence in patients with EGFR-sensitizing mutation-positive early-stage (clinical stage IB-IIIA) non-small cell lung…
- Trial name
- RAISE (NCT06477055)
- Where
- 2 sites in China
- Volunteers
- 43 people
- Sponsor
- Hunan Province Tumor Hospital